2025 Volume 62 Issue 2 Pages 146-152
In 2009, Hill et al. reported that familial pleuropulmonary blastoma was associated with DICER1 abnormalities. In addition to pleuropulmonary blastomas, various benign and malignant tumors associated with DICER1 pathogenic variants have been recognized, predominantly affecting children and young adults, including thyroid cancer, pediatric cystic nephroma, anaplastic sarcoma of the kidney (ASK), and nasal chondromesenchymal hamartoma. Although DICER1-related tumors can arise in multiple organs and display diverse histological features, they often share several characteristic patterns: (1) a component of poorly differentiated tumor cells that resemble the histology of fetal developmental stages, (2) variously differentiated components such as rhabdomyoblasts, immature cartilage, and neuroectodermal components, (3) tumors composed of cystic components or a mixture of cystic and solid components, and (4) histopathological and molecular biological evidence of a hyperplasia or precancerous stage to an invasive sarcoma. The term “DICER1-associated sarcomas” has been proposed for tumors associated with DICER1 pathogenic variants. The diagnosis of DICER1-associated tumors based on characteristic histological findings led to appropriate genetic testing and patient counseling.
